Molecular Basis, Diagnostic Challenges and Therapeutic Approaches of Alport Syndrome: A Primer for Clinicians

Alport syndrome is a genetic and hereditary disease, caused by mutations in the type IV collagen genes COL4A3, COL4A4 and COL4A5, that affects the glomerular basement membrane of the kidney. It is a rare disease with an underestimated prevalence. Genetic analysis of population cohorts has revealed t...

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Detalles Bibliográficos
Autores principales: Martínez-Pulleiro, Raquel, García-Murias, María, Fidalgo-Díaz, Manuel, García-González, Miguel Ángel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8541626/
https://www.ncbi.nlm.nih.gov/pubmed/34681722
http://dx.doi.org/10.3390/ijms222011063

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